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MCP > Cancer Genetics > Flashcards

Cancer Genetics Flashcards

1
Q

What does it mean for a tumor to be clonal?

A

They start as a single cell with a mutation and proliferates to form a group of similarly anormal cells. A tumor can usually be traced back to the original mutant

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2
Q

When is a tumor malignant?

A

When the uncontrolled cell growth has a change in the normal organizational pattern of tissues or cells

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3
Q

What technology can help determine clonality and follow disease progression?

A

karyotype

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4
Q

During metastasis, do cells that invade change morphology?

A

No they keep original cell morphology

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5
Q

How does cancer spread locally and systematically?

A

By invasion and metastasis respectively

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6
Q

Name the type of cancer of mesenchymal tissue (bone, cartilage, muscle, fat)

A

Sarcoma

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7
Q

Name the type of cancer of epitheliod tiussues

A

Carcinoma

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8
Q

Name the type of cancer of hematiopoietic/lymphoid organs?

A

Leukemias

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9
Q

What cells are affected in leukemias?

A

WBCs from bone marrow

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10
Q

What cells are affected in lymphomas?

A

WBCs from the spleen and lymph nodes

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11
Q

How do environmental mutages like UV light, asbestos, cig. Smoke, plastics , dyess (#3) cause cancer?

A

lead to changes in normal cell regulation and development

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12
Q

What is an oncogene?

A

dominantly acting gene involved in unregulated cell growth and prolferation

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13
Q

Give examples of viral oncogenes in humans

A

HPV (cervical cancer E6/E7), EBV (nasopharyngeal cancer, Hodgkin and Brukitt Lymphoma), HHV-8 (herpes virus-Kaposi sarcoma), HTLV (luekemia, HTLV-1 is Tcell)

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14
Q

Growth factors, cell surface receptors, intracellular signal transduction, DNA binding protiens, are associated with what genes?

A

Proto-oncogenes - structurally important housekeeping genes involved in cell proliferation and development

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15
Q

What activates a proto-oncogene and what is its effect?

A

A mutation (translocation, amplifacation, pt. mutation) that causes a change in gene regulation, transcription, or a ptn. Product generating alterations to cell growth, proliferation or differentiation

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16
Q

Generally speaking, Gleevec targets what? Specifically?

A

A genetic lesion ; BCR-ABL tyrosine kinase

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17
Q

What translocation is seen in Acute Promyelocytic Leukemia?

A

PML gene on 15 aand RARA gene on 17

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18
Q

What kind of ptn. Prodcut is seen in APL?

A

CHIMERIC proteiin product

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19
Q

What iS seen in FISH in APL?

A

1 RED, 1 GREEN, and 2 YELLOW (fusion signals)

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20
Q

Loss or inactivation of what genetic element leads to neoplastic growth from altered phenotype?

A

Tumor Suppressors (examples: Gate keepers and caretakers)

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21
Q

Is tumor suppressor induced cancer dominant or recessive?

A

recessive

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22
Q

Gate keeper vs. caretaker, what’s the difference?

A

Gatekeeper regulates cell cycle or inhibits cell growth. Caretaker maintains cellular integrity by repairing DNA damage and therefore is needed for genetic stability

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23
Q

3 important Tumor suppressors include _____ and are located on which chromosomes

A

RB1 -chormosome 13, P53of short arm of chromosome 17, MTS1 (multiple tumor suppressor1)

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24
Q

How do tumor suppressor mutations often manifest themselves? What diagnostic tech. can be helpful?

A

Solid Tumor; karyotype analysis

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25
Q

A mutation at at band 13q14.2, leads to what disease?

A

Retinoblastoma in neonates to children up to 5 years

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26
Q

Retinoblastoma treatments include

A

laser surgery, enucleation

27
Q

Sporadic and inherited retinoblastoma leads to what phenotype?

A

unilateral or bilateral respectively tumor od the immature retinal cells of the eye (retinoblasts)- 2 mutations are ncessary to knock out the function of a specific RB1 locus (aka Knudson’s 2-Hit Hypothesis)

28
Q

A specific tissue target is asscoiated with what tumor suppressor mutation?

A

Primary mutation

29
Q

2 primary genes asscoiated with breast cancer include _____ and are located on which chromosomes

A

BRCA1 (chromosome 17, near NF1 and p53) and BRCA2 (chromosome 13 near RB1)

30
Q

What testing should be done for Familial breast cancer?

A

Review of Pedigrees to assess risk followed dby testing for BRCA1 and BRCA2 (though this is complicated by the presence of multiple mutations)

31
Q

What population is at risk for familial breast cancer?

A

Ashkenazi Jewish

32
Q

What diseases are associated with Chromosome Breakage Syndromes?

A

Fanconi Anemia, Bloom Syndrome, Ataxia Telangiectasia, Xeroderma Pigmetosum, cockayne Syndrome

33
Q

Breast cancer, Hereditary Non-polyposis Colon Cancer, and bladder cancer are associated with what kind of mutation?

A

Caretaker mutation

34
Q

What are two possible effects of errors in sister chromatid exchange?

A

Triradials- instead of the normal linear chromosome, a replication error has resulted in a Y-shaped, forked structure or also excessive breakage can lead to chromosome deletiona dn genomic defects

35
Q

Which disease is associated with mutations in DNA ligase 1 or DNA helicase?

A

Bloom syndrome-15q26.1

36
Q

Which disease is associated with mutations in Excision repair cross complementation?

A

Cockayne Syndrome, 5q121, 10q11

37
Q

Which disease is associated with mutations in Excision repair?

A

Xeroderma Pigmentosum- 3p25, 13q33, chr.9

38
Q

What results from a defect in mismatch repair?

A

2 cell lines that can proliferate, resulting in a new, potentiallyabnormal, cell line

39
Q

What technology can be used to determine DNA repair defects? In what field is this useful?

A

Microsatellite Analysis; investigative- for DNA fingerprinting

40
Q

Hereditary Nonpolypsis Colon Cancer is predominantly caused by which 2 genes?

A

MSH2 and MLH1 mismatch repair genes

41
Q

What technology should be studied to determine the majority of HNPCC?

A

Microsatellites because they are sensitive to effects in DNA repair because they are subject to replication error due to slippage

42
Q

What can be used to monitor the presence and evolution of clones?

A

karyotype

43
Q

What describes the change over time in the karyotype due to acquisition of different mutations?

A

Karyotype evolution

44
Q

What are constitutional findings?

A

original DNA and chromosome complement that is the foundation for the genetic constitution in all cells of the body; originating in the zygote

45
Q

What describes a change that occurs in the DNA or constitutional karyotype and is usually present in a single cell line?

A

an acquired anomaly

46
Q

examples of loss of genetic material

A

deletion ; monosomy

47
Q

examples of gain of genetic material

A

duplication, trisomy, gene amplification

48
Q

relocation of genetic material

A

translocation

49
Q

t (8;21) (q22;q22) translocation, inv (16)(p13q22) and t (4;11) translocation is associateed with what diseases?

A

Leukemia: AML-M2, AML-M4, ALL respectively

50
Q

What is Loss of Heterozygosity? How does it appear?

A

Apparent homozygosity or hemizygosity in a tissue which demonstraets heterozygosity constitutionally; on a karyotype it can appear as one single band despite having multiple copies of a choromosome (Therefore, LOH does not mean ther is only a single allele present)

51
Q

Which chromosome is affected in PML?

A

15

52
Q

Which chromosome is affected in Retinoic acid receptor alpha?

A

17

53
Q

What Is a mixed sex transplant?

A

male donor : female recipient or reverse

54
Q

What technology helps determine the relative proportions of the populations in a mixed sex transplant?

A

FISH: test for 2 Xs or X+Y and tabulate

55
Q

Which drug will induce a response in patients with beast cancer with gene amplification?

A

Herceptin

56
Q

Whcich cancer is HER-2/neu gene amplification associated with?

A

breast cancer

57
Q

Describe a normal cell and tumor cell HER2 signals on FISH assay

A

2 green control signals and 2 HER2 signals in a normal cell. 2 green control signals per cell but multiple red signals indicate gene amplification in a tumor cell.

58
Q

Which technologies detect BCR-ABL arrangements? Relative frequency of use for detection?

A

95% karyotype + FISH, 5% PCR

59
Q

Which genetic study allows us to determine relatedness between different diseases (ex.disease course/clinical manifestation)?

A

Expression Arrays

60
Q

You want to discriminate bet. Normal prostate tissue and tuissue with prostate cancer, what type of microarray analysis will provide valuable information on genes and proteins specific to each?

A

Expression Arrays

61
Q

What kind of mutation is usually required for cancerdisease expression?

A

Somatic . Disease is due to multi-step process at somatic cell level

62
Q

Carrrier parent of an inherited cancer has what percentage chance of passing on a mutation?

A

50%

63
Q

What is Li Fraumeni?

A

A type of familial cancer associated with the inheritance of a mutation of p53 causing loss of checkpoint control of DNA damage. It has no specific target tissue.

64
Q

What is TGFBR2?

A

A growth factor receptor. It is associated with rarer cases of HNPCC.

MCP (2 decks)

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